COL6A2 Chromosome 21
Collagen type VI alpha 2 chain
Upload your DNA to see your personal genotypes for variants in COL6A2.
What This Gene Does
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Collagens
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000142173
Associated Conditions (41)
Bethlem myopathy 1A
Inborn genetic diseases
Collagen 6-related myopathy
COL6A2-related disorder
Bethlem myopathy 1B
Tip-toe gait
Myopathy
Ullrich congenital muscular dystrophy 1A
Myosclerosis
Limb-girdle muscular dystrophy
Clear cell carcinoma of kidney
Ullrich congenital muscular dystrophy 1B
Bethlem myopathy
Lung cancer
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
+21 more conditions
Key Variants
RS1035908319
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
Health Risk
RS1057523383
Conflicting classifications of pathogenicity
Health Risk
RS1085307668
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS111341650
Conflicting classifications of pathogenicity
Collagen 6-related myopathy, Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS111630733
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS112317259
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS113002150
Conflicting classifications of pathogenicity
Collagen 6-related myopathy, Bethlem myopathy 1A, COL6A2-related disorder
Health Risk
RS113017484
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
Health Risk
RS11554669
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
Health Risk
RS1157175258
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
Health Risk
RS117725825
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Collagen 6-related myopathy, COL6A2-related disorder
Health Risk
RS1193152104
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
All Variants (531)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886042705 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886043270 | Health Risk | Pathogenic | — |
| RS886044140 | Health Risk | Pathogenic | — |
| RS886044261 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1B, Bethlem myopathy 1A |
| RS886044265 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886044398 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886044466 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886044484 | Health Risk | Pathogenic | — |
| RS1057518925 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy, Hyperextensible hand joints, Fatigue |
| RS1057520717 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1B, Ullrich congenital muscular dystrophy 1B |
| RS111697581 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1331260332 | Health Risk | Pathogenic/Likely pathogenic | COL6A2-related disorder, COL6A2-related disorder |
| RS1555872873 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1555877252 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A |
| RS2078657536 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1B, Ullrich congenital muscular dystrophy 1B |
| RS2123620765 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2123625485 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A, COL6A2-related core myopathy |
| RS2123646873 | Health Risk | Pathogenic/Likely pathogenic | Ullrich congenital muscular dystrophy 1B, Ullrich congenital muscular dystrophy 1B |
| RS267606747 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B, Bethlem myopathy 1A |
| RS387906610 | Health Risk | Pathogenic/Likely pathogenic | Collagen 6-related myopathy, Bethlem myopathy 1A, BETHLEM MYOPATHY 1B |
| RS747900252 | Health Risk | Pathogenic/Likely pathogenic | Collagen 6-related myopathy, Bethlem myopathy 1A, Muscle weakness |
| RS749593004 | Health Risk | Pathogenic/Likely pathogenic | Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A |
| RS751409618 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS770842374 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A |
| RS886043164 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886043187 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A |
| RS886043554 | Health Risk | Pathogenic/Likely pathogenic | Ullrich congenital muscular dystrophy 1B, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B |
| RS886044023 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886044215 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, COL6A2-related disorder, Bethlem myopathy 1A |
| RS886044399 | Health Risk | Pathogenic/Likely pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS886044526 | Health Risk | Pathogenic/Likely pathogenic | — |